ClinVar Miner

List of variants in gene combination ERCC2, KLC3 reported as uncertain significance for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_177417.3(KLC3):c.*120A>G rs140285667 0.00158
NM_177417.3(KLC3):c.*135C>T rs545076380 0.00004
NM_177417.3(KLC3):c.*91C>A rs1048488855 0.00004
NM_177417.3(KLC3):c.*105G>A rs200355865 0.00001
NM_177417.3(KLC3):c.*48G>A rs771414914 0.00001
NM_177417.3(KLC3):c.*110C>A rs1162168169
NM_177417.3(KLC3):c.*153G>C rs560366651
NM_177417.3(KLC3):c.*66_*67insT rs886054493

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